Incidental Mutation 'R0621:Thy1'
ID 58672
Institutional Source Beutler Lab
Gene Symbol Thy1
Ensembl Gene ENSMUSG00000032011
Gene Name thymus cell antigen 1, theta
Synonyms Thy1.2, Thy1.1, Thy 1.2, Thy-1, Thy-1.2, T25, CD90
MMRRC Submission 038810-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0621 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 43954681-43959876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43958030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 53 (F53I)
Ref Sequence ENSEMBL: ENSMUSP00000150960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114840] [ENSMUST00000214627] [ENSMUST00000215156] [ENSMUST00000215809]
AlphaFold P01831
Predicted Effect probably damaging
Transcript: ENSMUST00000114840
AA Change: F53I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110489
Gene: ENSMUSG00000032011
AA Change: F53I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 33 107 2.13e-7 SMART
low complexity region 145 154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213733
Predicted Effect probably benign
Transcript: ENSMUST00000214627
Predicted Effect probably benign
Transcript: ENSMUST00000215156
Predicted Effect probably damaging
Transcript: ENSMUST00000215809
AA Change: F53I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a glycoprotein that is anchored to the cell surface of thymocytes, neuronal and other cells through a glycosyl-phosphatidylinositol moiety. A soluble form of the encoded protein has also been detected in serum and cerebrospinal fluid. The encoded protein undergoes further processing to generate the mature protein which mediates cell-cell interactions to trigger downstream signaling pathways. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice are viable, fertile, and display no abnormalities in the brain and spinal cord, have normal axonal development and regeneration and no behavioral abnormalities. Long term potentiation is inhibited in the dentate gyrus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,399,898 (GRCm39) D33G probably damaging Het
Adgre1 T A 17: 57,748,359 (GRCm39) S520T probably damaging Het
Afg2a C T 3: 37,486,178 (GRCm39) T300I probably benign Het
Ankrd40 A G 11: 94,230,433 (GRCm39) probably null Het
Aph1b A T 9: 66,686,616 (GRCm39) I177K possibly damaging Het
Armc3 A T 2: 19,300,204 (GRCm39) N579I probably damaging Het
Atxn7l1 T C 12: 33,376,099 (GRCm39) V131A probably benign Het
C130073F10Rik A G 4: 101,747,992 (GRCm39) Y61H probably damaging Het
C1s2 A T 6: 124,608,071 (GRCm39) L214Q probably damaging Het
Caprin2 A T 6: 148,760,176 (GRCm39) S425T possibly damaging Het
Cdc42ep4 G A 11: 113,619,522 (GRCm39) R290C probably damaging Het
Cenpf T C 1: 189,404,825 (GRCm39) T352A probably benign Het
Col6a4 A T 9: 105,943,990 (GRCm39) F1161L probably damaging Het
Dctn2 T C 10: 127,113,809 (GRCm39) probably null Het
Ddx24 T C 12: 103,391,817 (GRCm39) probably benign Het
Dsg1c C A 18: 20,412,752 (GRCm39) A591D possibly damaging Het
Efnb3 T C 11: 69,446,798 (GRCm39) D304G probably damaging Het
Erbb3 T C 10: 128,422,094 (GRCm39) Y50C probably benign Het
Eya3 T G 4: 132,422,113 (GRCm39) D275E probably benign Het
Fam81a G T 9: 70,000,929 (GRCm39) Q272K probably benign Het
Foxf1 T C 8: 121,811,919 (GRCm39) V261A probably damaging Het
Gm9637 G A 14: 19,402,011 (GRCm38) noncoding transcript Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Gtf2h2 A T 13: 100,625,433 (GRCm39) L61Q probably damaging Het
Hey2 T A 10: 30,710,382 (GRCm39) I124F probably benign Het
Hoxb3 A T 11: 96,236,789 (GRCm39) Y289F probably damaging Het
Kctd3 C T 1: 188,713,538 (GRCm39) R399Q probably damaging Het
Kif26b C G 1: 178,743,218 (GRCm39) P1105A probably benign Het
Klhl30 C T 1: 91,285,585 (GRCm39) T369M probably damaging Het
Lipo2 C T 19: 33,708,339 (GRCm39) G225D probably damaging Het
Macf1 T C 4: 123,274,327 (GRCm39) K6350E probably damaging Het
Myh13 A C 11: 67,232,058 (GRCm39) N446T probably damaging Het
Nos1ap T C 1: 170,146,150 (GRCm39) D468G probably damaging Het
Or10j2 C T 1: 173,098,242 (GRCm39) P167S possibly damaging Het
Or11h7 G A 14: 50,891,419 (GRCm39) G242R possibly damaging Het
Or4a77 C A 2: 89,487,459 (GRCm39) E109* probably null Het
Pde3a T C 6: 141,195,725 (GRCm39) L137P probably damaging Het
Ppm1f G A 16: 16,733,172 (GRCm39) R233Q probably benign Het
Rtf2 C A 2: 172,308,216 (GRCm39) A205E possibly damaging Het
Sh2d5 T C 4: 137,985,629 (GRCm39) F359S probably benign Het
Siglec1 G A 2: 130,916,188 (GRCm39) T1254M probably benign Het
Slc39a11 G A 11: 113,354,905 (GRCm39) P108L probably benign Het
Slc6a5 G A 7: 49,567,113 (GRCm39) probably null Het
Snph C T 2: 151,435,642 (GRCm39) V360M probably damaging Het
Snx29 A G 16: 11,223,651 (GRCm39) probably null Het
Sos1 A G 17: 80,759,408 (GRCm39) probably null Het
St8sia6 T A 2: 13,662,093 (GRCm39) N246I probably damaging Het
Tle3 T A 9: 61,317,387 (GRCm39) Y421* probably null Het
Ttc21b C T 2: 66,056,355 (GRCm39) R677Q probably benign Het
Vmn2r107 A T 17: 20,595,252 (GRCm39) I602F probably benign Het
Wdr17 C A 8: 55,096,226 (GRCm39) G1016C probably benign Het
Wdr62 T C 7: 29,953,486 (GRCm39) E182G possibly damaging Het
Zfp597 A G 16: 3,684,228 (GRCm39) I176T probably benign Het
Other mutations in Thy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02832:Thy1 APN 9 43,958,111 (GRCm39) missense probably benign 0.00
R0551:Thy1 UTSW 9 43,958,645 (GRCm39) missense probably damaging 1.00
R1774:Thy1 UTSW 9 43,958,636 (GRCm39) missense probably benign 0.07
R3625:Thy1 UTSW 9 43,958,028 (GRCm39) missense probably damaging 1.00
R4724:Thy1 UTSW 9 43,958,645 (GRCm39) missense probably damaging 1.00
R7190:Thy1 UTSW 9 43,958,222 (GRCm39) missense possibly damaging 0.84
R7667:Thy1 UTSW 9 43,958,732 (GRCm39) missense probably damaging 1.00
R7684:Thy1 UTSW 9 43,957,855 (GRCm39) missense unknown
R9022:Thy1 UTSW 9 43,957,947 (GRCm39) missense probably damaging 1.00
R9227:Thy1 UTSW 9 43,958,004 (GRCm39) missense probably damaging 0.99
R9326:Thy1 UTSW 9 43,957,983 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTCCCCAAATTCAGAGAAGGCAC -3'
(R):5'- CACATAGACAGCAGCAGTTTCCCAG -3'

Sequencing Primer
(F):5'- TTCAGAGAAGGCACTGCTGTG -3'
(R):5'- tttttttttttATTGGCTACCCCAGC -3'
Posted On 2013-07-11